Variant report

Variant	rs17642108
Chromosome Location	chr4:119198362-119198363
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:119197988-119206014	GM12878	blood:	n/a	n/a
2	MAX	chr4:119198323-119198523	GM12878	blood:	n/a	n/a
3	SPI1	chr4:119198237-119198503	GM12878	blood:	n/a	n/a
4	ARID3A	chr4:119197553-119198416	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:119198265..119200504-chr4:119654029..119656125,2	K562	blood:
2	chr4:119198319..119200411-chr6:26198105..26199834,2	MCF-7	breast:
3	chr4:119150653..119153442-chr4:119197486..119199123,2	K562	blood:

Variant related genes	Relation type
SNHG8	TF binding region
ENSG00000197846	Chromatin interaction
ENSG00000196866	Chromatin interaction
ENSG00000197409	Chromatin interaction
ENSG00000150961	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs13105764	0.98[ASN][1000 genomes]
rs17049717	1.00[ASN][1000 genomes]
rs17642125	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17693234	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2292598	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs34001669	0.98[ASN][1000 genomes]
rs34062804	0.98[ASN][1000 genomes]
rs34618724	0.98[ASN][1000 genomes]
rs35000235	0.98[ASN][1000 genomes]
rs3805191	1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs71608357	0.98[ASN][1000 genomes]
rs72919279	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519017	chr4:118828807-119771481	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv1009076	chr4:118949490-119269424	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1001236	chr4:118949490-119271243	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	esv34038	chr4:119035124-119455391	Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv1001138	chr4:119095147-119461837	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv537230	chr4:119095147-119461837	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv1002771	chr4:119125361-119571237	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
8	nsv1003731	chr4:119138262-119506032	Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	esv1794655	chr4:119170156-119212103	Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119187200-119199000	Weak transcription	Colonic Mucosa	Colon
2	chr4:119187200-119199400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:119195000-119199000	Weak transcription	Osteobl	bone
4	chr4:119195400-119199000	Weak transcription	Primary T cells from cord blood	blood
5	chr4:119196800-119198400	Enhancers	Fetal Intestine Small	intestine
6	chr4:119196800-119199000	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr4:119197000-119198400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr4:119197000-119198400	Enhancers	Fetal Intestine Large	intestine
9	chr4:119197000-119198600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr4:119197000-119199000	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr4:119197200-119199000	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr4:119197400-119198600	Flanking Active TSS	HepG2	liver
13	chr4:119197600-119198400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr4:119197600-119199000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr4:119197600-119199200	Weak transcription	Pancreas	Pancrea
16	chr4:119197600-119199400	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr4:119197800-119200800	Active TSS	Duodenum Mucosa	Duodenum
18	chr4:119198000-119198600	Weak transcription	Stomach Mucosa	stomach
19	chr4:119198000-119199000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr4:119198000-119199000	Enhancers	A549	lung
21	chr4:119198200-119198400	Active TSS	Rectal Mucosa Donor 31	rectum
22	chr4:119198200-119198600	Flanking Active TSS	Liver	Liver
23	chr4:119198200-119198600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
24	chr4:119198200-119198800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr4:119198200-119199000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr4:119198200-119200200	Active TSS	GM12878-XiMat	blood

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